Obiteljska polipoza kolona u dječjoj dobi - 12 godišnje iskustvo

master's thesis

• Title (english): Familial adenomatous polyposis in children - 12 year experience
• Author: Ina Valpotić
• Mentor: Irena Senečić-Čala (mentor)
• Committee member: Duška Tješić-Drinković (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Irena Senečić-Čala (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2014-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Polipi su proliferativne tvorbe koje mogu rasti unutar lumena cijelom duljinom gastrointestinalnog sustava. Razlikuju se prema makroskopskom izgledu, kao i prema histološkoj građi. Pojava multiplih polipoidnih lezija naziva se polipoza, a među njima je najčešća nasljedna adenomatozna polipoza, FAP (engl. familial adenomatous polyposis). Postoji više varijanti ovog sindroma, ali svima je karakteristična pojava velikog broja polipa već od najranije dobi, sa značajnim rizikom od maligne alteracije i nastanka kolorektalnog karcinoma. Bolest se veže uz mutacije APC (engl. adenomatous polyposis coli – adenomatozna polipoza kolona) tumor supresorskog gena, ili, u rjeđem broju slučajeva, mutacije MUTYH (mutY homolog) gena, pa primjena genske dijagnostike može poslužiti kao metoda probira. Dijagnoza bolesti postavlja se endoskopskim pretragama, a za sada je jedina uspješna terapija kirurško odstranjenje kolona, iako postoje naznake pozitivnog učinka primjena selektivnih COX-2 (ciklooksigenaza 2) inhibitora.
Iskustva na Klinici za pedijatriju KBC Zagreb, u periodu između 2001. i 2013. godine, vežu se za 5 pacijenata s dijagnozom obiteljske polipoze kolona. Svi su pacijenti imali pozitivnu obiteljsku anamnezu, a troje je imalo i subjektivne smetnje u vidu hematohezije. Zbog nalaza adenomatoznih polipa visokog stupnja displazije, te dijagnoze carcinoma in situ jednog pacijenta, svi su pacijenti podvrgnuti kirurškom zahvatu.
Osim intestinalnih promjena i simptoma, FAP dovodi do cijelog niza ekstraintestinalnih manifestacija, stoga se u praćenju pacijenata s ovom dijagnozom, uz godišnje praćenje od strane gastroenterologa, savjetuju redovite kontrole oftalmologa, kao i mjerenje vrijednosti CEA (karcinoembrionalni antigen) i alfa-fetoproteina, ultrazvuk abdomena, te redovito praćenje štitne žlijezde.

Abstract (english)

Polyps refer to any mass projecting into the lumen throughout the gastrointestinal tract. They can be distinguished by their macroscopic appearance, but also by their histological structure. Disorders characterized by the presence of multiple polyps are called polyposis, and the most common polyposis syndrome is familial adenomatous polyposis (FAP). There are several variants of FAP associated conditions, all characterized by the appearance of hundreds to thousands of adenomas during the second decade of life and highly increased risk of cancer. FAP results from a germline mutation in the APC (adenomatous polyposis coli) tumor suppressor gene, or, in a minority of cases, from a mutation in MUTYH (mutY homolog) gene, so genetic testing can be used as a screening, for discriminating between affected and unaffected individuals. The diagnosis of FAP is confirmed by colonoscopic examination and, by the time, colectomy remains the only recommended treatment, although there are some studies showing positive effect of selective cyclooxygenase-2 inhibitors on reduction in the number and size of the adenomas.
Between 2001 and 2013, 5 patients with familial adenomatous polyposis were diagnosed and followed up at the Department of Pediatrics, Clinical Hospital Center Zagreb. All the patients had positive family history, and three of them presented with rectal bleeding at the time of diagnosis. One patient was diagnosed as having carcinoma in situ. Due to high grade dysplasia of adenomatous polyps, all 5 patients underwent colectomy with no serious complications.
In addition to intestinal polyps and associated conditions, there are numerous extraintestinal manifestations of FAP, so in these patients, beside annual colonoscopic examination, other examination, such as ophtalmological assessment, abdominal ultrasound, measurement of serum CEA (carcinoembryonic antigen) and alpha-fetoprotein concentrations and thyroid gland examination should be considered.

• Keywords: polip; obiteljska adenomatozna polipoza; kolorektalni karcinom; APC gen; MUTYH gen
• Keywords (english): polyp; familial adenomatuos polyposis; colorectal cancer; adenomatous polyposis coli gene; MUTYH gene
• Language: croatian
• URN:NBN: urn:nbn:hr:105:565410
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2016-03-10 09:56:43